Varaico: Literature-Extracted Genetic Variants

GLUD2

90 papers

RefSeq Summary

The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamin...

Pfam Domains

ELFV_dehydrog_Naa 112–242UCSCGlu/Leu/Phe/Val dehydrogenase, dimerisation domain

ELFV_dehydrogaa 263–463UCSCGlutamate/Leucine/Phenylalanine/Valine dehydrogenase

Gene Aliases

HGNC Name

glutamate dehydrogenase 2

HGNC Previous Symbol

GLUDP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012084.4

p.G404C

c.1210G>T

Surrounding Variants

1 paper

NM_012084.4

p.N406S

c.1217A>G

1 paper

NM_012084.4

p.R395K

c.1184G>A

1 paper

NM_012084.4

p.D414G

c.1241A>G

2 papers

NM_012084.4

p.K415R

c.1244A>G

2 papers

NM_012084.4

p.L418Q

c.1253T>A

1 paper

NM_012084.4

p.L423M

c.1267T>A

1 paper

NM_012084.4

p.A382P

c.1144G>C

1 paper

NM_012084.4

p.L428V

c.1282C>G

1 paper

NM_012084.4

p.L430V

c.1288T>G

1 paper

NM_012084.4

p.V374I

c.1120G>A

1 paper

NM_012084.4

p.F440L

c.1318T>C

1 paper

NM_012084.4

p.F440L

c.1320T>A